A3T (p.Ala3Thr) variant of PCCB (P05166)
A3T (p.Ala3Thr) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- gnomAD 3-136250382-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 22.20
- PolyPhen-2 0.04
- SIFT 0.12
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available